The Fastest Path Forward Starts Now
Dear CACNA1A Community,
We are on the precipice of thrilling innovation and I’m so excited to share this news with you all. Today, we are launching our new scientific strategy: The Fastest Path Forward.
Across the scientific community, momentum is building. What once felt out of reach is now coming into focus. As a community, we are better positioned than ever to develop treatments that address the root cause of CACNA1A-related disorders.
We have heard clearly from families that the highest priority is finding treatments that meaningfully change the course of this disease. Our responsibility now is to meet that moment with focus, urgency, and a clear path forward.
Our new scientific strategy reflects a shift in how we work. We are aligning our resources, our data, and our partnerships around one central goal: moving the most promising treatment toward a clinical trial as efficiently and thoughtfully as possible.
Over the next 24 months, our work will center on three connected priorities:
1. Building CACNA1A Connect: a platform designed for families to share their lived experience to fuel research
We are launching the CACNA1A Connect platform to make it easier for families to participate in research and share their lived experiences.
This platform will bring our data together in one place so we can better understand how CACNA1A-related disorders change over time and what treatments matter most to families.
Just as importantly, this effort allows the CACNA1A Foundation to steward our community’s data in a more coordinated way so it can be shared with academic collaborators and industry partners to accelerate progress. It also ensures the work stays grounded in our families’ priorities.
2. Learning as much as possible from the data we already collected
Our community has already contributed an extraordinary foundation of data through efforts like the Natural History Study, RARE-X, and Citizen.
We are now bringing these pieces together, and analyzing them more intentionally to identify patterns, close gaps, and generate insights that can be shared across the field.
This work will help develop clinical care recommendations, create better standards of care for our families, guide research decisions, and ensure that future studies and trials are built on our families’ lived experiences. Once completed, we will share our analysis with the CACNA1A community.
3. Advancing the most promising treatment targeting CACNA1A or Cav2.1
We are pursuing an ambitious targeted strategy for drug development. The goal is a precision medicine approach in the context of developing a therapy that specifically modulates the CACNA1A gene or the Cav2.1 channel protein, and moves to the clinic the fastest.
The chosen approach also must address the priorities and needs of the CACNA1A community. As such, the Foundation has appointed Dr. Brandon M. Henry, M.D., as Chief Science Officer. Dr. Henry is a physician–scientist specializing in the clinical development of gene replacement, gene editing, and RNA therapies for rare and ultra-rare disease, and he will lead this vital effort. Together, we are currently assessing the opportunities and approaches with the biggest potential. Once decided, we will share with our community the chosen modality with the highest level of promise. We are going all in on The Fastest Path Forward.
Our hope is that this chosen modality will open the door to a range of therapeutic options for the wide continuum of CACNA1A-related disorders. We are laser-focused on finding the best way to unlock treatments for as many of our families as possible, in the shortest timeframe.
This is an exciting new direction that reflects years of shared effort: families, researchers, clinicians, and partners all contributing to the progress that has brought us here to this pivotal moment.
What comes next will require the same level of partnership and participation. The steps we take now, together, will shape how quickly and effectively we can move toward the development of a treatment that transforms CACNA1A-related disorders. I believe in this future and know that we can build it together.
In the coming months, we will share more about our scientific strategy and how you can be a vital part of this next phase. Together, we are all in on finding The Fastest Path Forward to a brighter future for our CACNA1A Champions.
Please email me at shira@cacna1a.org with your questions and comments.